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Global Translational Medicine Personalized, multi-omics disease detection

these technologies were often plagued by issues such as low natural language processing, such as BERT and GPT, have
reproducibility and sensitivity. Today, robust experimental the potential to be applied to bioinformatics problems,
protocols, standardized workflows, and improved including genomics, transcriptomics, proteomics, drug
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instrumentation have mitigated many of these challenges. discovery, and single-cell analysis. New bioinformatics
Researchers can now generate reliable and consistent data, tools continue to emerge and evolve to deepen our
enabling meaningful comparisons across experiments and understanding of the omics landscape, 40,41 showcasing the
laboratories. 31 dynamic of this field.

The depth of omics analysis has expanded exponentially. Perhaps one of the most transformative aspects of omics
In genomics, for instance, the advent of next-generation techniques maturation has been the significant reduction
sequencing platforms has facilitated the sequencing of entire in costs. What were once prohibitively expensive endeavors
genomes, including regions previously considered “dark have become increasingly accessible to researchers and
matter” due to their inaccessibility. Similarly, advancements clinicians alike. Economies of scale, competition among
in proteomics, metabolomics, lipidomics and other omics technology providers and advancements in automation
domains have enabled the detection and quantification of have all contributed to making omics analyses more
a broader range of molecules with greater sensitivity. As an affordable. This cost-efficiency has democratized access to
illustrative example, the profiling of the plasma proteome these techniques and has kick-started their integration into
has advanced from the determination of a few hundred research, routine healthcare, and personalized medicine.
proteins to the quantification of several thousands of As omics techniques continue to mature, their impact
proteins in less than a decade. 26,32,33 An increase in depth is on science, medicine, and society at large is poised to
also an increase in sensitivity, and the evolution of omics also grow. The convergence of robustness, increased
techniques has also made them increasingly adaptable to depth, high throughput, advanced statistical tools, and
low-input material samples, conserving priceless clinical cost-efficiency has set the stage for personalized omics-
materials and allowing analyses previously impossible based approaches that have the potential to revolutionize
due to limited sample materials. 34,35 This evolution has, healthcare, diagnosis, treatment, and our understanding of
for example, opened up for the utilization of dried blood the molecular underpinnings of health and disease.
spots, which is a minimally invasive sample collection
method only involving a few drops of blood applied onto 4. Wearable health trackers: Pioneering
filter paper and then dried. This approach allows for predictive and diagnostic healthcare
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the analysis of nucleic acids, proteins, metabolites and
other biomolecules from small, easily obtainable blood Another emerging area of modern medicine is the inclusion
samples. The ability to work with modest input material of wearable medical devices that offer a novel potential for
has far-reaching implications, facilitating studies in health research, a niche that has been gaining popularity
remote or resource-limited settings, pediatric research and due to their noninvasive nature, affordability, and improved
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population-scale omics investigations, ultimately making accuracy. They provide insights into many health fields
since they can measure diverse health parameters, including
the benefits of personalized medicine more accessible to
diverse populations. Like the increased depth, a current gastrointestinal activity for predicting diseases such as
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increase in throughput now allows for tens of thousands ileus, ultraviolet (sun) exposure for skin health, and
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of samples for a genomics study and even a thousand electrolyte levels for conditions such as cystic fibrosis; and
allow early detection of atrial fibrillation and other heart
samples for metabolomics and proteomics. These numbers conditions, continuous electrocardiogram monitoring,
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will soon be surpassed – indeed if they have not been determination of noninvasive blood glucose levels,
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already. 26,28,37
smart inhaler usage for asthma management, activity
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Generating impressive data are a lot less impressive if tracking for fitness, sleep patterns profiling, assessment
they are beyond our comprehension. Therefore, continued of environmental exposures, and more. Wearable health
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development of statistical techniques is required to process trackers have, in their own right, also ushered in a new era
and analyze the tidal wave of data points generated from of personalized healthcare, offering continuous monitoring
each experiment. Bioinformatics and data science have and the potential to predict and diagnose a range of
long since become indispensable players in omics research. conditions. Health-care providers can remotely monitor
Within this dynamic landscape, innovative techniques such patient data, allowing for timely interventions and reducing
as machine learning and artificial intelligence (AI) have the need for frequent in-person visits. These devices, which
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risen to prominence in the way we interpret and utilize encompass smartwatches, fitness trackers, smart rings,
omics data. Specifically, large language models used in hearables, smart clothing and more, have transcended their
Volume 3 Issue 1 (2024) 3 https://doi.org/10.36922/gtm.2357